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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J. Willer T, et al. Among authors: strahl s. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. doi: 10.1073/pnas.0405899101. Epub 2004 Sep 21. Proc Natl Acad Sci U S A. 2004. PMID: 15383666 Free PMC article.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: strahl s. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 Free PMC article.
Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion.
Lommel M, Winterhalter PR, Willer T, Dahlhoff M, Schneider MR, Bartels MF, Renner-Müller I, Ruppert T, Wolf E, Strahl S. Lommel M, et al. Among authors: strahl s. Proc Natl Acad Sci U S A. 2013 Dec 24;110(52):21024-9. doi: 10.1073/pnas.1316753110. Epub 2013 Dec 2. Proc Natl Acad Sci U S A. 2013. PMID: 24297939 Free PMC article.
76 results